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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
PR:000026122 -
http://purl.obolibrary.org/obo/PR_000026122
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000026122
PRO name
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
Synonyms
PRO-Short-label
:
EXACT:
hMCCC2/var:D172fs
PRO-proteoform-std
:
EXACT:
UniProtKB:Q9HCC0
, 1-172
NARROW:
UniProtKB:Q9HCC0-1
, 1-172
Other
:
EXACT:
MCC beta D172fs (human) | MCCB D172fs (human)
Definition
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by
UniProtKB:Q9HCC0
.
UniProtKB:Q9HCC0
, 1-172." [
PMID:11170888
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:000026117
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Functional Annotation (PRO-centric view)
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PRO Term
GO Annotation
Evidence
PR:000026122
hMCCC2/var:D172fs
UniProtKB:Q9HCC0, 1-172 | UniProtKB:Q9HCC0-1, 1-172 | MCC beta D172fs (human) | MCCB D172fs (human)
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11170888